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Title: A Toll-like receptor 2 genetic variant modulates occurrence of bacterial infections in patients with sickle cell disease
Authors: TOZATTO-MAIO, KarinaGIROT, RobertLY, Indou D.ROCHA, VandersonPINTO, Ana C. SilvaDIAGNE, IbrahimaBENZERARA, YahiaDINARDO, Carla L.KASHIMA, SimoneLESTON-ARAUJO, ItauaKENZEY, ChantalFONSECA, Guilherme H. H.RODRIGUES, Evandra S.VOLT, FernandaJARDULI, Luciana R.RUGGERI, AnnalisaMARIASELVAM, Christina M.GUALANDRO, Sandra F. M.ELAYOUBI, HanadiCUNHA, RenatoCAPPELLI, BarbaraMALMEGRIM, Kelen C. R.SIMOES, Belinda P.GLUCKMAN, ElianeTAMOUZA, Ryad
Citation: BRITISH JOURNAL OF HAEMATOLOGY, v.185, n.5, p.918-924, 2019
Abstract: Despite adequate immunization and penicillin prophylaxis, bacterial infections remain a leading cause of morbidity and mortality in patients with sickle cell disease (SCD). Besides hyposplenism, inflammatory and genetic factors might modulate their susceptibility to bacterial infections. We performed a candidate gene association of single nucleotide polymorphisms (SNPs) located in Toll-like receptor (TLR) genes, encoding prominent molecules for innate immune responses, with the occurrence of bacterial infections in patients with SCD. A cohort followed in centres in Brazil, France and Senegal (n=430) was divided in two groups: patients who presented at least one episode of bacterial infection (n=235) and patients who never had bacterial infections (n=195). There were no differences in gender or age distribution among the groups. The frequency of the TLR2 rs4696480 TA genotype was significantly lower in the infected group (50% vs. 67%, odds ratio [OR]=050, 95% confidence interval [CI] 034-075, P<0001), and the TT genotype was significantly higher in the infected group (15% vs. 5%, OR=318, 95% CI 153-661, P<0001). Previous reports demonstrated higher secretion of inflammatory factors in cells from AA individuals, lower occurrence and severity of immune diseases in T carriers. The rs4696480 TA genotype might stand between deleterious effects of over inflammatory response (AA genotype) and inefficient responses (TT genotype) to infectious agents in SCD settings.
Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MCM
Departamento de Clínica Médica - FM/MCM

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/13
LIM/13 - Laboratório de Genética e Cardiologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/31
LIM/31 - Laboratório de Genética e Hematologia Molecular

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